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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124911
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15200
ClinVar RCV Id:
RCV000016383
RCV000641470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.His147Asp
CA124910
NM_000518.5:c.439C>G